A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005369



Internal ID18747900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621212..100702221hg38UCSC Ensembl
Innerchr3:100340056..100421065hg19UCSC Ensembl
Innerchr3:101822746..101903755hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3881010
hg1981010
hg1881010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4831n100
Supporting Variantsnssv3604239, nssv3604240
Samples
Known GenesGPR128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005369
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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